Thalassemia affects chromosome 16 (for α-globin gene mutations) and chromosome 11 (for β-globin gene mutations).
Understanding Thalassemia and Chromosomal Involvement
Thalassemia is an inherited autosomal recessive blood disorder. It results from mutations in the genes responsible for producing globin proteins, which are essential components of hemoglobin. Hemoglobin, found in red blood cells, carries oxygen throughout the body.
Affected Chromosomes
The specific chromosomes affected in thalassemia depend on the type of globin gene mutation:
- Chromosome 16: This chromosome houses the α-globin gene cluster. Mutations in these genes lead to α-thalassemia.
- Chromosome 11: This chromosome contains the β-globin gene cluster. Mutations here result in β-thalassemia.
Types of Thalassemia
Depending on which globin chain is affected, thalassemia is classified into:
- Alpha (α) Thalassemia: Reduced or absent production of α-globin chains.
- Beta (β) Thalassemia: Reduced or absent production of β-globin chains.
Inheritance Pattern
Thalassemia is an autosomal recessive disease, meaning:
- Both parents must carry the mutated gene for a child to inherit the condition.
- If both parents are carriers, there's a 25% chance their child will have thalassemia, a 50% chance their child will be a carrier, and a 25% chance their child will not be affected.
